THAIS VIRGINIA MOURA MACHADO COSTA
Projetos de Pesquisa
Unidades Organizacionais
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina
7 resultados
Resultados de Busca
Agora exibindo 1 - 7 de 7
- Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome(2014) ZANARDO, Evelin Aline; PIAZZON, Flavia Balbo; DUTRA, Roberta Lelis; DIAS, Alexandre Torchio; MONTENEGRO, Marilia Moreira; NOVO-FILHO, Gil Monteiro; COSTA, Thais Virginia Moura Machado; NASCIMENTO, Amom Mendes; KIM, Chong Ae; KULIKOWSKI, Leslie DomeniciGenome rearrangements are caused by the erroneous repair of DNA double-strand breaks, leading to several alterations that result in loss or gain of the structural genomic of a dosage-sensitive genes. However, the mechanisms that promote the complexity of rearrangements of congenital or developmental defects in human disease are unclear. The investigation of complex genomic abnormalities could help to elucidate the mechanisms and causes for the formation and facilitate the understanding of congenital or developmental defects in human disease. We here report one case of a patient with atypical clinical features of the 1p36 syndrome and the use of cytogenomic techniques to characterize the genomic alterations. Analysis by multiplex ligation-dependent probe amplification and array revealed a complex rearrangement in the 1p36.3 region with deletions and duplication interspaced by normal sequences. We also suggest that chromoanagenesis could be a possible mechanism involved in the repair and stabilization of this rearrangement.
conferenceObject Molecular autopsy reveals clues for genetic basis of congenital valve defect(2019) MADIA, F. A. R.; DIAS, A. T.; ZANARDO, E. A.; DAMASCENO, J. G.; NASCIMENTO, A. M.; COSTA, T. V. M. M.; CHEHIMI, S. N.; NOVO-FILHO, G. M.; MONTENEGRO, M. M.; OLIVEIRA, Y. G.; FREITAS, A. B.; VIEIRA, L. L.; SCHULTZ, R.; GONCALVES, F. T.; FRIDMAN, C.; KIM, C. A.; KULIKOWSKI, L. D.conferenceObject Investigating the CNVs in routine diagnostics using WES and array in Brazilian patients(2019) ZANARDO, E. A.; CHEHIMI, S. N.; MONTEIRO, F. P.; MADIA, F. A. R.; NOVO-FILHO, G. M.; DIAS, A. T.; MONTENEGRO, M. M.; OLIVEIRA, Y. G.; VIEIRA, L. L.; ROCHA, M.; BRASIL, A. S.; NASCIMENTO, A. M.; COSTA, T. V. M. M.; DAMASCENO, J. G.; KOK, F.; KIM, C. A.; KULIKOWSKI, L. D.conferenceObject Cytogenomic Diagnosis of Congenital Heart Diseases(2013) KULIKOWSKI, Leslie; ZANARDO, Evelin; DUTRA, Roberta; PIAZZON, Flavia; DIAS, Alexandre; MONTENEGRO, Marilia; NOVO-FILHO, Gil; BASSO, Mariana; COSTA, Thais; NASCIMENTO, Amom; GRASSI, Marcilia; CARNEIRO-SAMPAIO, Magda; KIM, ChongconferenceObject Insights from indels profiling in a cohort of 123 Brazilian patients with congenital malformations and neurological disabilities(2018) DAMASCENO, J. G.; ZANARDO, E. A.; COSTA, T. V. M. M.; NOVO-FILHO, G. M.; MONTENEGRO, M. M.; MADIA, F. A. R.; DUTRA, R. L.; DIAS, A. T.; PIAZZON, F. B.; NASCIMENTO, A. M.; ROCHA, M.; MARCHI, F. A.; CHRISTOFOLINI, D. M.; CARVALHO, A. F. L.; MELARAGNO, M. I.; KIM, C. A.; KULIKOWSKI, L. D.conferenceObject The role of CNVs in molecular mechanisms for rearrangements in 22q11.2 region diseases(2013) DUTRA, Roberta; ZANARDO, Evelin; PIAZZON, Flavia; DIAS, Alexandre; MONTENEGRO, Marilia; NOVO-FILHO, Gil; BASSO, Mariana; COSTA, Thais; NASCIMENTO, Amon; KIM, Chong; KULIKOWSKI, Leslie; MELARAGNO, Maria Isabel; MELO, Joana BarbosaconferenceObject Sequencing of synthetic long reads to elucidate structure and mechanisms for formation in patients with genomic structural alterations(2018) NOVO FILHO, G. M.; MAFRA, F.; MONTENEGRO, M. M.; ZANARDO, E. A.; DIAS, A. T.; NASCIMENTO, A. M.; DAMASCENO, J. G.; MADIA, F. A. R.; COSTA, T. V. M. M.; OLIVEIRA, Y. G.; KAMINSKI, C.; GARIFALLOU, J.; GONZALES, M. V.; TIAN, L.; KAO, C.; KIM, C. A.; PELLEGRINO, R.; HAKONARSON, H.; KULIKOWSKI, L. D.